Mutagenetix > Incidental Mutation

Incidental Mutation 'R8958:Zmpste24'

682151

Institutional Source

Beutler Lab

Gene Symbol

Zmpste24

Ensembl Gene

ENSMUSG00000043207

Gene Name

zinc metallopeptidase, STE24

Synonyms

A530043O15Rik

MMRRC Submission

068794-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.374) question?

Stock #

R8958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120916434-120955438 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 120944508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 97 (E97*)

Ref Sequence

ENSEMBL: ENSMUSP00000122588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058754] [ENSMUST00000135788]

AlphaFold

Q80W54

Predicted Effect

probably null
Transcript: ENSMUST00000058754
AA Change: E119*

SMART Domains

Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: E119*

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M48_N	41	225	2.5e-70	PFAM
Pfam:Peptidase_M48	228	473	5.5e-75	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000135788
AA Change: E97*

SMART Domains

Protein: ENSMUSP00000122588
Gene: ENSMUSG00000043207
AA Change: E97*

Domain	Start	End	E-Value	Type
PDB:2YPT\|E	1	146	5e-58	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants are deficient in proteolytic processing of prelamin A and display many abnormalities including retarded growth, bone fragility, hair loss, cardiomyopathy, muscular dystrophy and lipodystrophy. Most die prematurely, but some survive and reproduce. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	T	12: 21,399,934 (GRCm39)	N157K	possibly damaging	Het
Adck2	T	C	6: 39,560,848 (GRCm39)	V412A	probably benign	Het
Adgrb3	C	T	1: 25,865,190 (GRCm39)	V11I	possibly damaging	Het
Arhgef17	T	C	7: 100,579,019 (GRCm39)	D643G	probably damaging	Het
Arvcf	A	G	16: 18,221,376 (GRCm39)	Q597R	probably damaging	Het
Brdt	T	C	5: 107,525,877 (GRCm39)	V910A	probably benign	Het
Cachd1	A	G	4: 100,851,283 (GRCm39)	D1167G	probably benign	Het
Ccdc187	A	C	2: 26,165,577 (GRCm39)	S860A	probably benign	Het
Ccdc28a	T	C	10: 18,089,926 (GRCm39)	I113M	probably benign	Het
Cdc5l	T	C	17: 45,704,127 (GRCm39)	N699S	probably benign	Het
Cenpf	A	T	1: 189,385,350 (GRCm39)	I2310K	possibly damaging	Het
Ch25h	A	T	19: 34,452,414 (GRCm39)	I38N	probably benign	Het
Chrdl2	C	A	7: 99,670,129 (GRCm39)	P84Q	probably damaging	Het
Cltc	A	T	11: 86,586,403 (GRCm39)	Y1673N	possibly damaging	Het
Cr1l	C	G	1: 194,812,243 (GRCm39)	G27R	probably damaging	Het
Crebbp	G	A	16: 4,031,172 (GRCm39)		probably benign	Het
Dync1h1	G	A	12: 110,586,805 (GRCm39)	E929K	probably benign	Het
E2f7	C	A	10: 110,601,615 (GRCm39)	P324Q	probably damaging	Het
Eif3b	A	G	5: 140,411,194 (GRCm39)	D215G	probably benign	Het
Ephb1	A	G	9: 102,072,614 (GRCm39)	I55T	probably damaging	Het
Fbxw14	A	T	9: 109,107,810 (GRCm39)	L188Q	probably damaging	Het
Foxg1	T	C	12: 49,431,944 (GRCm39)	S226P	probably damaging	Het
Gbe1	T	C	16: 70,275,210 (GRCm39)	F337L	probably damaging	Het
Glg1	A	T	8: 111,899,116 (GRCm39)	C716*	probably null	Het
Gp1ba	C	G	11: 70,531,730 (GRCm39)		probably benign	Het
Grm7	C	T	6: 111,472,783 (GRCm39)	S36L	probably damaging	Het
H2-M5	T	A	17: 37,299,520 (GRCm39)	I167F	probably damaging	Het
H3c6	T	C	13: 23,746,421 (GRCm39)	H40R	possibly damaging	Het
Hycc1	A	G	5: 24,169,934 (GRCm39)	C472R	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ino80	C	T	2: 119,213,862 (GRCm39)	R1236H	probably damaging	Het
Ism1	T	A	2: 139,573,995 (GRCm39)	I115N	possibly damaging	Het
Kdm4a	A	G	4: 117,999,573 (GRCm39)	S950P	probably benign	Het
Lama5	T	C	2: 179,835,592 (GRCm39)	T1254A	probably benign	Het
Lipo2	T	A	19: 33,698,361 (GRCm39)	K339*	probably null	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Mkrn2os	G	C	6: 115,562,317 (GRCm39)	S215R	probably benign	Het
Myzap	G	T	9: 71,457,485 (GRCm39)	D303E	possibly damaging	Het
Naa11	T	C	5: 97,540,084 (GRCm39)	N25D	probably damaging	Het
Naip5	T	A	13: 100,354,117 (GRCm39)	K1149*	probably null	Het
Obscn	C	T	11: 58,964,158 (GRCm39)	V3083M	probably damaging	Het
Or10d1	T	C	9: 39,484,091 (GRCm39)	T155A	probably benign	Het
Or4k48	T	C	2: 111,476,070 (GRCm39)	T91A	possibly damaging	Het
Parn	T	A	16: 13,466,322 (GRCm39)	E241D	possibly damaging	Het
Pax1	T	A	2: 147,210,517 (GRCm39)		probably null	Het
Pclo	A	T	5: 14,725,369 (GRCm39)	E1409V	unknown	Het
Pclo	A	G	5: 14,763,056 (GRCm39)	Y3843C	unknown	Het
Ppp2r3d	A	T	9: 101,088,634 (GRCm39)	M563K	probably benign	Het
Prdm1	T	G	10: 44,316,729 (GRCm39)	K623Q	probably damaging	Het
Ptpn13	T	C	5: 103,698,973 (GRCm39)	V1152A	probably benign	Het
Ptx3	G	A	3: 66,128,391 (GRCm39)	A151T	probably benign	Het
Rab11fip1	T	C	8: 27,644,940 (GRCm39)	S282G	possibly damaging	Het
Ros1	G	T	10: 51,972,190 (GRCm39)	N1641K	probably damaging	Het
Syne1	T	C	10: 5,181,768 (GRCm39)	K4189R	probably benign	Het
Tcf3	T	C	10: 80,246,091 (GRCm39)	K611E	probably damaging	Het
Tmem215	A	G	4: 40,474,376 (GRCm39)	Q151R	probably benign	Het
Trappc8	T	C	18: 21,003,667 (GRCm39)	I254V	probably benign	Het
Trim46	T	C	3: 89,143,760 (GRCm39)	D556G	probably damaging	Het
Wdr97	A	T	15: 76,245,694 (GRCm39)	E1310D		Het
Zfp513	C	A	5: 31,356,825 (GRCm39)	R487L	probably damaging	Het

Other mutations in Zmpste24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Zmpste24	APN	4	120,940,012 (GRCm39)	unclassified	probably benign
IGL00672:Zmpste24	APN	4	120,923,057 (GRCm39)	missense	probably damaging	1.00
IGL00828:Zmpste24	APN	4	120,931,717 (GRCm39)	missense	possibly damaging	0.66
IGL01731:Zmpste24	APN	4	120,955,081 (GRCm39)	missense	probably benign
IGL01738:Zmpste24	APN	4	120,918,308 (GRCm39)	missense	probably damaging	1.00
IGL02668:Zmpste24	APN	4	120,918,297 (GRCm39)	missense	probably damaging	1.00
R0097:Zmpste24	UTSW	4	120,952,740 (GRCm39)	splice site	probably benign
R0097:Zmpste24	UTSW	4	120,952,740 (GRCm39)	splice site	probably benign
R0226:Zmpste24	UTSW	4	120,938,406 (GRCm39)	missense	probably benign	0.00
R0277:Zmpste24	UTSW	4	120,940,050 (GRCm39)	missense	probably damaging	1.00
R0323:Zmpste24	UTSW	4	120,940,050 (GRCm39)	missense	probably damaging	1.00
R1822:Zmpste24	UTSW	4	120,944,513 (GRCm39)	missense	possibly damaging	0.78
R2233:Zmpste24	UTSW	4	120,955,162 (GRCm39)	missense	probably benign	0.05
R2374:Zmpste24	UTSW	4	120,931,734 (GRCm39)	missense	probably benign
R3683:Zmpste24	UTSW	4	120,918,288 (GRCm39)	missense	probably damaging	1.00
R4810:Zmpste24	UTSW	4	120,918,251 (GRCm39)	missense	probably damaging	1.00
R5169:Zmpste24	UTSW	4	120,925,914 (GRCm39)	missense	probably damaging	1.00
R5650:Zmpste24	UTSW	4	120,940,074 (GRCm39)	missense	possibly damaging	0.67
R5709:Zmpste24	UTSW	4	120,923,075 (GRCm39)	missense	probably benign
R6429:Zmpste24	UTSW	4	120,952,867 (GRCm39)	missense	probably damaging	0.99
R7165:Zmpste24	UTSW	4	120,940,091 (GRCm39)	missense	probably null	1.00
R7353:Zmpste24	UTSW	4	120,952,778 (GRCm39)	missense	probably damaging	1.00
R7498:Zmpste24	UTSW	4	120,940,028 (GRCm39)	missense	probably benign	0.00
R8416:Zmpste24	UTSW	4	120,940,556 (GRCm39)	missense	probably benign	0.42
R9138:Zmpste24	UTSW	4	120,923,018 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCACTGGATGATGAACACTTTT -3'
(R):5'- GTGTCACAGTGATTTGTAGTCTTC -3'

Sequencing Primer
(F):5'- ACAAGCTGCTTTGGTCACAG -3'
(R):5'- GAAGTCATACCCCCCTTT -3'

Posted On

2021-08-31